Canonical Allele Identifier: CA10588624
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265511
ClinVar RCV Id: RCV000255230 RCV001195164 RCV003328315
dbSNP Id: rs886039590
COSMIC: COSM5028162
MyVariant Identifiers: chr16:g.68853195G>A (hg19) chr16:g.68819292G>A (hg38)
ERepo: CA10588624/MONDO:0007648/007 CA10588624/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819292G>A , CM000678.2:g.68819292G>A GRCh38
NC_000016.9:g.68853195G>A , CM000678.1:g.68853195G>A GRCh37
NC_000016.8:g.67410696G>A NCBI36
NG_008021.1:g.87001G>A , LRG_301:g.87001G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1578G>A MANE Select ENSP00000261769.4:p.Trp526Ter
ENST00000261769.9:c.1578G>A ENSP00000261769.4:p.Trp526Ter
ENST00000422392.6:c.1395G>A ENSP00000414946.2:p.Trp465Ter
ENST00000562836.5:n.1649G>A
ENST00000566510.5:c.*244G>A ENSP00000458139.1:n.*244G>A
ENST00000566612.5:c.1566-2709G>A ENSP00000454782.1:n.1566-2709G>A
ENST00000611625.4:c.1641G>A ENSP00000481063.1:p.Trp547Ter
ENST00000612417.4:c.1578G>A ENSP00000478360.1:p.Trp526Ter
ENST00000621016.4:c.1578G>A ENSP00000480664.1:p.Trp526Ter
NM_004360.3:c.1578G>A , LRG_301t1:c.1578G>A NP_004351.1:p.Trp526Ter
XM_011523488.1:c.843G>A XP_011521790.1:p.Trp281Ter
XM_011523489.1:c.843G>A XP_011521791.1:p.Trp281Ter
NM_001317184.1:c.1395G>A NP_001304113.1:p.Trp465Ter
NM_001317185.1:c.30G>A NP_001304114.1:p.Trp10Ter
NM_001317186.1:c.-254-2709G>A NP_001304115.1:n.-254-2709G>A
NM_004360.4:c.1578G>A NP_004351.1:p.Trp526Ter
NM_004360.5:c.1578G>A MANE Select NP_004351.1:p.Trp526Ter
NM_001317184.2:c.1395G>A NP_001304113.1:p.Trp465Ter
NM_001317185.2:c.30G>A NP_001304114.1:p.Trp10Ter
NM_001317186.2:c.-254-2709G>A NP_001304115.1:n.-254-2709G>A
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